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KCNC3

Synonyms
KSHIIID, KV3.3, SCA13
External resources
Summary
The Shaker gene family of Drosophila encodes components of voltage-gated potassium channels and is comprised of four subfamilies. Based on sequence similarity, this gene is similar to one of these subfamilies, namely the Shaw subfamily. The protein encoded by this gene belongs to the delayed rectifier class of channel proteins and is an integral membrane protein that mediates the voltage-dependent potassium ion permeability of excitable membranes. Alternate splicing results in several transcript variants.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
36
Likely pathogenic
1
VUS
18,686
Likely benign
2,306
Benign
223

Patient phenotypes

Proportions of phenotypes among 31 patients carrying pathogenic or likely pathogenic variants on KCNC3 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
41.9%
Abnormality of the musculoskeletal system
19.4%
Abnormality of head or neck
16.1%
Abnormality of the eye
16.1%
Abnormality of the cardiovascular system
12.9%
Abnormality of the digestive system
12.9%
Abnormality of the immune system
9.7%
Abnormality of the integument
9.7%
Growth abnormality
9.7%
Abnormality of blood and blood-forming tissues
6.5%
Abnormality of limbs
6.5%
Abnormality of the genitourinary system
6.5%
Abnormal cellular phenotype
3.2%
Constitutional symptom
3.2%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the ear
0%
Abnormality of the endocrine system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Neoplasm
0%

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